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分子遺伝学分野

研究業績

Corresponding author
    【2019年】
  1. Tsuboi M, Kondo K, Masuda K, Tange S, Kajiura K, Kohmoto T, Watanabe M, Takizawa H, Imoto I, Tangoku A. Prognostic significance of GAD1 overexpression in patients with resected lung adenocarcinoma. Cancer Medicine. (in press)
  2. Kikuchi-Koike R, Nagasaka K, Tsuda H, Ishii Y, Sakamoto M, Kikuchi Y, Fukui S, Miyagawa Y, Hiraike H, Kobayashi T, Kinoshita T, Kanai Y, Shibata T, Imoto I, Inazawa J, Matsubara O, Ayabe T. Array comparative genomic hybridization analysis discloses chromosome copy number alterations as indicators of patient outcome in lymph node-negative breast cancer. BMC Cancer. 2019;19(1):521.
  3. Fukuda D, Nishimoto S, Aini K, Tanaka A, Nishiguchi T, Kim-Kaneyama J, Lei XF, Masuda K, Naruto T, Tanaka K, Higashikuni Y, Hirata Y, Yagi S, Kusunose K, Yamada H, Soeki T, Imoto I, Akasaka T, Shimabukuro M, Sata M. Toll-like receptor 9 plays a pivotal role in angiotensin II-induced atherosclerosis. J Am Heart Assoc. 2019;8(7):e010860
  4. Okano S, Makita Y, Katada A, Harabuchi Y, Kohmoto T, Naruto T, Masuda K, Imoto I. Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. Hum Genome Var. 2019;6:8.
  5. 【2018年】
  6. Tanikawa C, Kamatani Y, Toyoshima O, Sakamoto H, Ito H, Takahashi A, Momozawa Y, Hirata M, Fuse N, Takai-Igarashi T, Shimizu A, Sasaki M, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Naito M, Hishida A, Wakai K, Furusyo N, Murakami Y, Nakamura Y, Imoto I, Inazawa J, Oze I, Sato N, Tanioka F, Sugimura H, Hirose H, Yoshida T, Matsuo K, Kubo M, Matsuda K. A GWAS identifies gastric cancer susceptibility loci at 12q24.11-1 12 and 20q11.21. Cancer Sci. 2018;109(12):4015-4024.
  7. Miki A, Sakurada Y, Tanaka K, Semba K, Mitamura Y, Yuzawa M, Tajima A, Nakatochi M, Yamamoto K, Matsuo K, Imoto I, Honda S. Genome-wide association study to identify a new susceptibility locus for central serous chorioretinopathy in the Japanese population. Invest Ophthalmol Vis Sci. 2018;59(13):5542-5547
  8. Hara T, Phuong PT, Fukuda D, Yamaguchi K, Murata C, Nishimoto S, Yagi S, Kusunose K, Yamada H, Soeki T, Wakatsuki T, Imoto I, Shimabukuro M, Sata M. Protease-activated receptor-2 plays a critical role in vascular inflammation and atherosclerosis in apolipoprotein e-deficient mice. Circulation. 2018;38(16):1706-1719.. doi: 10.1161/CIRCULATIONAHA.118.033544.
  9. Okamoto N, Kohmoto T, Naruto T, Masuda K, Imoto I*. Primary microcephaly caused by novel compound heterozygous mutations in ASPM. Hum Genome Var. 2018;5:18015 doi: 10.1038/hgv.2018.15
  10. Sato Y, Tajima A, Sato T, Nozawa S, Yoshiike M, Imoto I, Yamauchi A, Iwamoto T. Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men. J Med Genet. 2018;55(6):415-21. doi: 10.1136/jmedgenet-2017-104991.
  11. Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. Am J Med Genet A. 2018;176(3):707-11. doi: 10.1002/ajmg.a.38606
  12. Tokaji N, Ito H, Kohmoto T, Naruto T, Takahashi R, Goji A, Mori M, Toda Y, Saito M, Tange S, Masuda K, Kagami S, Imoto I*. A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. Am J Med Genet A. 2018;176(3):699-702. doi: 10.1002/ajmg.a.38595
  13. Harada R, Kimura M, Sato Y, Taniguchi T, Tomonari T, Tanaka T, Tanaka H, Muguruma N, Shinomiya H, Honda H, Imoto I, Sogabe M, Okahisa T, Takayama T. APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism. BMC Gastroenterol. 2018;18:24. doi: 10.1186/s12876-018-0747-5
  14. Eguchi M, Ozaki E, Yamauchi T, Ohta M, Higaki T, Masuda K, Imoto I, Ishii E, Eguchi-Ishimae M. Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. Am J Med Genet A. 2018;176:351-8. doi: 10.1002/ajmg.a.38578.
  15. 【2017年】
  16. Hirasawa A, Imoto I*, Naruto T, Akahane T, Yamagami W, Nomura H, Masuda K, Susumu N, Tsuda H, Aoki D. Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. Oncotarget. 2017;8:112258-67. doi:10.18632/oncotarget.22733
  17. Fujita Y, Masuda K, Hamada J, Shoda K, Naruto T, Hamada S, Miyakami Y, Kohmoto T, Watanabe M, Takahashi R, Tange S, Saito M, Kudo Y, Fujiwara H, Ichikawa D, Tangoku A, Otsuji E, Imoto I*. KH-type splicing regulatory protein is involved in esophageal squamous cell carcinoma progression. Oncotarget. 2017;8:101130-45. doi: 10.18632/oncotarget.20926.
  18. Kajiura K, Takizawa H, Morimoto Y, Masuda K, Tsuboi M, Kishibuchi R, Wusiman N, Sawada T, Kawakita N, Toba H, Yoshida M, Kawakami Y, Naruto T, Imoto I, Tangoku A, Kondo K. Frequent silencing of RASSF1A by DNA methylation in thymic neuroendocrine tumours. Lung Cancer. 2017;111:116-23. doi: 10.1016/j.lungcan.2017.05.019.
  19. Okamoto N, Kohmoto T, Naruto T, Masuda K, Komori T, Imoto I*. Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis. Hum Genome Var. 2017;4:17036. doi: 10.1038/hgv.2017.36.
  20. Okada A, Kohmoto T, Naruto T, Yokota I, Kotani M, Shimada A, Miyamoto Y, Takahashi R, Goji A, Masuda K, Kagami S, Imoto I*. The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection. Hum Genome Var. 2017;4:17031;doi10.1038/hgv/2017.31.
  21. Kohmoto T, Masuda K, Naruto T, Tange S, Shoda K, Hamada J, Saito M, Ichikawa D, Tajima A, Otsuji E, Imoto I*. Construction of a combinatorial pipeline using two somatic variant calling methods for whole exome sequence data of gastric cancer. J Med Invest. 2017;64:223-240. doi: 10.2152/jmi.64.233
  22. Obata F, Tani K, Yamaguchi H, Tabata R, Bando H, Imoto I. Comparison of the efficacy and safety of 10-mg empagliflozin every day versus every other day in Japanese patients with Type 2 Diabetes Mellitus: a pilot trial. J Med Invest. 2017;64:50-57.
  23. Nishi A, Numata S, Tajima A, Zhu X, Ito K, Saito A, Kato Y, Kinoshita M, Shimodera S, Ono S, Ochi S, Imamura A, Kurotaki N, Ueno SI, Iwata N, Fukui K, Imoto I, Kamiya A, Ohmori T. De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity. Sci Rep. 2017;7(1):2887. doi: 10.1038/s41598-017-02792-z.
  24. Yoshimaru T, Ono M, Bando Y, Chen YA, Mizuguchi K, Komatsu M, Shima H, Imoto I, Izumi K, Honda J, Miyoshi Y, Sasa M, Katagiri T. A-kinase anchoring protein BIG3 coordinates oestrogen signaling in breast cancer cells. Nat Commun. 2017;8:15427. doi: 10.1038/ncomms15427
  25. Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I*. A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements. Mol Cytogenet. 2017;10:15. doi: 10.1186/s13039-017-0316-6.
  26. Sato Y, Tajima A, Katsurayama M, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Imoto I, Yamauchi A, Iwamoto T. An independent validation study of three single nucleotide polymorphisms at the sex hormone-binding globulin locus for testosterone levels identified by genome-wide association studies. Hum Reprod Open. 2017:hox002. Doi. 10.193/hropen/hox002
  27. Matsudate Y, Naruto T, Hayashi Y, Minami M, Tohyama M, Yokota K, Yamada D, Imoto I, Kubo Y. Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome. J Dermatol Sci. 2017;86(3):206-11. doi: 10.1016/j.jdermsci.2017.02.282.
  28. Shoda K, Ichikawa D, Fujita Y, Masuda K, Hiramoto H, Hamada J, Arita T, Konishi H, Kosuga T, Komatsu S, Shinozaki A, Okamoto K, Imoto I*, Otsuji E. Clinical utility of circulating cell-free Epstein-Barr virus DNA in patients with gastric cancer. Oncotarget. 2017;8(17):28796-28804. doi: 10.18632/oncotarget.15675.
  29. Kinoshita M, Numata S, Tajima A, Yamamori H, Yasuda Y, Fujimoto M, Watanabe S, Umehara H, Shimodera S, Nakazawa T, Kikuchi M, Nakaya A, Hashimoto H, Imoto I, Hashimoto R, Ohmori T. Effect of Clozapine on DNA Methylation in Peripheral Leukocytes from Patients with Treatment-Resistant Schizophrenia. Int J Mol Sci. 2017;18(3). pii: E632. doi: 10.3390/ijms18030632.
  30. Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I*. A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. Am J Med Genet A. 2017;173(4):1082-1086. doi: 10.1002/ajmg.a.38122.
  31. Shoda K, Ichikawa D, Fujita Y, Masuda K, Hiramoto H, Hamada J, Arita T, Konishi H, Komatsu S, Shinozaki A, Kakihara N, Okamoto K, Taniguchi H, Imoto I*, Otsuji E. Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric cancer. Gastric Cancer. 2017;20:126-135. doi. 10.1007/s10120-016-0599-z.
  32. Kajiura K, Masuda K, Naruto T, Kohmoto T, Watanabe M, Tsuboi M, Takizawa H, Kondo K, Tangoku A, Imoto I*. Frequent silencing of the candidate tumor suppressor TRIM58 by promoter methylation in early-stage lung adenocarcinoma. Oncotarget. 2017;8(2):2890-2905. doi: 10.18632/oncotarget.13761.
  33. Okamoto N, Watanabe M, Naruto T, Matsuda K, Kohmoto T, Saito M, Masuda K, Imoto I*. Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. Hum Genome Var. 2017;4:16045 doi: 10.1038/hgv.2016.45
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